Canonical Allele Identifier: CA9390507
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 890266
ClinVar RCV Id: RCV001124713 RCV003130161
dbSNP Id: rs781420585
ExAC: 19:36339274 A / G
gnomAD v2: 19-36339274-A-G
gnomAD v4: 19-35848372-A-G
MyVariant Identifiers: chr19:g.36339274A>G (hg19) chr19:g.35848372A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848372A>G , CM000681.2:g.35848372A>G GRCh38
NC_000019.9:g.36339274A>G , CM000681.1:g.36339274A>G GRCh37
NC_000019.8:g.41031114A>G NCBI36
NG_013356.2:g.25916T>C , LRG_693:g.25916T>C
NG_051206.1:g.1738A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1196T>C MANE Select ENSP00000368190.4:p.Met399Thr
ENST00000353632.6:c.1196T>C ENSP00000343634.5:p.Met399Thr
ENST00000378910.9:c.1196T>C ENSP00000368190.4:p.Met399Thr
ENST00000592132.1:n.203T>C
NM_004646.3:c.1196T>C , LRG_693t1:c.1196T>C NP_004637.1:p.Met399Thr
NM_004646.4:c.1196T>C MANE Select NP_004637.1:p.Met399Thr
Search 100 bp 5'
Search 100 bp 3'